NM_005214.4:c.49A>G

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  2. NM_005214.4:c.49A>G

HGVS Expressions

  • NG_011502.1:g.5206A>G
  • NM_005214.4:c.49A>G
  • NP_005205.2:p.Thr17Ala
  • NC_000002.12:g.203867991A>G

Associated Genes

Cytotoxic T Lymphocyte-Associated 4
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Clinvar Clinical Significance

Benign, Risk factor

CTGA Clinical Significance

Association

Variant Type

Substitution

dbSNP

231775

Clinvar

16921

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
222100.G.2LebanonAssociationType 1 Diabetes MellitusEi Wafai et al. 2011 39 Lebanese patients with T1DM
222100.G.3LebanonAssociationType 1 Diabetes MellitusTaleb et al. 2010 Study group comprising of 305 diabetics,...
222100.G.4LebanonAssociationType 1 Diabetes MellitusZalloua et al. 2004 Study group comprising of 190 diabetics ...
222100.G.5.1United Arab Emirates1080.389AssociationType 1 Diabetes MellitusSharma et al. 2021 139 patients with Type I diabetes. Signi...
222100.G.5.2United Arab Emirates660.193Sharma et al. 2021 171 healthy controls
266600.G.1.1Tunisia66AssociationInflammatory Bowel Disease 1Ben Alaya et al. 2009 Group of 33 Crohn's disease patients wit...
266600.G.1.2Tunisia35AssociationInflammatory Bowel Disease 1Ben Alaya et al. 2009 Group of 35 Crohn's disease patients wit...
275000.G.1LebanonAssociationGraves DiseaseNakkash-Chmaisse et al. 2004 Significant association with Graves Dise...
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Contributors

  • Pratibha Nair: 27.05.2018

Edit History

  • Pratibha Nair: 12.10.2022
  • Pratibha Nair: 09.02.2022
  • Pratibha Nair: 11.03.2021
  • Sayeeda Hana: 13.03.2020
  • Pratibha Nair: 26.12.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.